{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T16:36:25Z","timestamp":1726158985979},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":8494,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1982,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have studied a sibship with one confirmed and three probable cases of the Marden\u2010Walker syndrome (MWS). Our patient had the major manifestations of blepharophimosis and squint; narrowly arched palate with micrognathia; small mouth and mouth\u2010breathing; facial deformities and distortions; congenital muscle weakness with resulting scoliosis; mild pectus excavatum; camptodactylies and hip and finger joints subluxation. In addition, he had small, apparently low\u2010set and slightly malformed auricles with a unilateral preauricular tag. However, he had no apparent renal or cardiovascular involvement.<\/jats:p><jats:p>Results of CPK, EMG, and of histochemical, light microscopic, and ultrastructural studies of muscle biopsy do not suggest a primary myopathy but rather CNS related weakness\/hypotonia with small muscle mass and hypoactive DTRs. This pathogenetic hypothesis is confirmed by the presence of severe mental retardation and minor brain changes suggesting cortical atrophy. In five previously reported cases there has been microcephaly. Phenotype analysis does not convince that the MWS is a true malformation syndrome, but rather hints at the possibility of a congenital metabolic dysplasia. Genetic analysis demonstrates autosomal\u2010recessive inheitance in this and two other instances; primarily sporadic occurrence leaves open the possibility of genetic heterogeneity.<\/jats:p>","DOI":"10.1002\/ajmg.1320110303","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:40:04Z","timestamp":1118515204000},"page":"259-271","source":"Crossref","is-referenced-by-count":26,"title":["Brief clinical report and review: The Marden\u2010Walker syndrome"],"prefix":"10.1002","volume":"11","author":[{"given":"Nadia Y.","family":"Jaatoul","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadra E.","family":"Haddad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leila A.","family":"Khoury","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adel K.","family":"Afifi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia B.","family":"Bahuth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary E.","family":"Deeb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad A.","family":"Mikati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vazken M.","family":"Der Kaloustian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1979.02130070071015"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/88.2.313"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1970.00480230073009"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.1944.tb07327.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.21.12.1214"},{"key":"e_1_2_1_7_1","first-page":"193","volume-title":"Year Book of Pediatrics","author":"Gellis SS","year":"1963"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.1.50"},{"key":"e_1_2_1_9_1","first-page":"945","article-title":"Osteo\u2010chondro\u2010muscular dystrophy. A disorder manifested by multiple skeletal deformities, myotonia and dystrophic changes in muscle","volume":"44","author":"Huttenlocher PR","year":"1969","journal-title":"Pediatrics"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.5.366"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1966.02090120093009"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1969.02100030472016"},{"key":"e_1_2_1_13_1","first-page":"470","article-title":"Marden\u2010Walker syndrome","volume":"2","author":"Passarge E","year":"1975","journal-title":"Birth Defects 11"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1962.00960030056011"},{"key":"e_1_2_1_15_1","first-page":"456","article-title":"A child with facial and skeletal dysmorphia reminiscent of Schwartz syndrome","volume":"2","author":"Simpson JL","year":"1975","journal-title":"Birth Defects 11"},{"key":"e_1_2_1_16_1","first-page":"104","article-title":"Probable Marden\u2010Walker syndrome: Evidence for autosomal recessive inheritance","volume":"2","author":"Temtamy SA","year":"1975","journal-title":"Birth Defects 11"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441934"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000304574"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320110303","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320110303","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T00:58:43Z","timestamp":1699837123000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320110303"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,3]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1982,3]]}},"alternative-id":["10.1002\/ajmg.1320110303"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320110303","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1982,3]]}}}